Incidental Mutation 'R8771:Cdh22'
| ID |
664392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh22
|
| Ensembl Gene |
ENSMUSG00000053166 |
| Gene Name |
cadherin 22 |
| Synonyms |
PB-cadherin |
| MMRRC Submission |
068602-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R8771 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164953427-165076773 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 164988689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 222
(V222E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065438]
[ENSMUST00000138643]
|
| AlphaFold |
Q9WTP5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065438
AA Change: V222E
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066864
Gene: ENSMUSG00000053166
AA Change: V222E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
CA
|
82 |
163 |
2.19e-16 |
SMART |
|
CA
|
187 |
272 |
3.11e-30 |
SMART |
|
CA
|
296 |
390 |
4.88e-14 |
SMART |
|
CA
|
413 |
494 |
2.27e-23 |
SMART |
|
CA
|
517 |
604 |
4.52e-9 |
SMART |
|
transmembrane domain
|
622 |
644 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C
|
647 |
803 |
4.3e-46 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138643
AA Change: V222E
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120785
Gene: ENSMUSG00000053166
AA Change: V222E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
CA
|
82 |
163 |
2.19e-16 |
SMART |
|
CA
|
187 |
272 |
3.11e-30 |
SMART |
|
CA
|
296 |
390 |
4.88e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,880,320 (GRCm39) |
I451T |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,880,496 (GRCm39) |
K1236E |
unknown |
Het |
| AI661453 |
T |
C |
17: 47,777,683 (GRCm39) |
S470P |
unknown |
Het |
| Ano5 |
C |
A |
7: 51,216,095 (GRCm39) |
N357K |
probably damaging |
Het |
| Ano5 |
C |
T |
7: 51,220,047 (GRCm39) |
Q396* |
probably null |
Het |
| Baz1b |
T |
A |
5: 135,273,151 (GRCm39) |
M1425K |
probably benign |
Het |
| Celsr1 |
A |
T |
15: 85,788,175 (GRCm39) |
S2692R |
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,255,249 (GRCm39) |
I144T |
possibly damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,761,940 (GRCm39) |
N1309I |
probably damaging |
Het |
| Dnmt3b |
C |
T |
2: 153,504,734 (GRCm39) |
T112M |
possibly damaging |
Het |
| Eif4g3 |
C |
T |
4: 137,907,848 (GRCm39) |
Q1283* |
probably null |
Het |
| Etnppl |
T |
A |
3: 130,414,024 (GRCm39) |
M41K |
probably damaging |
Het |
| Hhatl |
G |
A |
9: 121,617,776 (GRCm39) |
T271I |
possibly damaging |
Het |
| Igkv5-37 |
A |
G |
6: 69,940,423 (GRCm39) |
S74P |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,779 (GRCm39) |
V272A |
probably benign |
Het |
| Lgr6 |
A |
T |
1: 134,933,429 (GRCm39) |
L262* |
probably null |
Het |
| Lrriq3 |
G |
A |
3: 154,899,270 (GRCm39) |
V590I |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,360,668 (GRCm39) |
V382A |
probably damaging |
Het |
| Minar2 |
T |
C |
18: 59,200,052 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,240,596 (GRCm39) |
T1429A |
probably benign |
Het |
| Mroh5 |
A |
T |
15: 73,693,203 (GRCm39) |
M79K |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,556,709 (GRCm39) |
K553R |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,300,743 (GRCm39) |
T1488A |
probably benign |
Het |
| Or4c12 |
T |
C |
2: 89,773,565 (GRCm39) |
K298R |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,294 (GRCm39) |
Y149C |
probably benign |
Het |
| Or5m10b |
T |
G |
2: 85,699,712 (GRCm39) |
Y259D |
probably damaging |
Het |
| Or5p76 |
T |
A |
7: 108,122,632 (GRCm39) |
N175I |
possibly damaging |
Het |
| Prl7a1 |
A |
T |
13: 27,819,811 (GRCm39) |
W148R |
probably damaging |
Het |
| Ptpn2 |
G |
T |
18: 67,805,659 (GRCm39) |
T402K |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,068,987 (GRCm39) |
M1665T |
possibly damaging |
Het |
| Raet1e |
G |
T |
10: 22,057,041 (GRCm39) |
V122F |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,357,841 (GRCm39) |
E255G |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,188,624 (GRCm39) |
Y828C |
probably damaging |
Het |
| Sprr1a |
T |
A |
3: 92,391,989 (GRCm39) |
H4L |
probably benign |
Het |
| Sptssa |
A |
G |
12: 54,703,211 (GRCm39) |
Y20H |
probably damaging |
Het |
| Synpo2l |
A |
G |
14: 20,710,491 (GRCm39) |
S939P |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,010,800 (GRCm39) |
V568A |
probably damaging |
Het |
| Tmem132c |
C |
T |
5: 127,437,192 (GRCm39) |
P227L |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,286,180 (GRCm39) |
S548P |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,721,018 (GRCm39) |
|
probably benign |
Het |
| Ttll6 |
A |
G |
11: 96,042,762 (GRCm39) |
Y436C |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,685,554 (GRCm39) |
D2226G |
possibly damaging |
Het |
| Vmn1r142 |
T |
C |
7: 21,862,737 (GRCm39) |
M242V |
probably benign |
Het |
| Vmn2r12 |
T |
G |
5: 109,239,952 (GRCm39) |
T204P |
possibly damaging |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Vmn2r61 |
C |
A |
7: 41,916,194 (GRCm39) |
A269D |
probably damaging |
Het |
| Zfp148 |
A |
G |
16: 33,317,656 (GRCm39) |
D776G |
possibly damaging |
Het |
| Zfp775 |
A |
T |
6: 48,596,906 (GRCm39) |
Q260L |
probably benign |
Het |
|
| Other mutations in Cdh22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Cdh22
|
APN |
2 |
164,954,521 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01868:Cdh22
|
APN |
2 |
164,999,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01932:Cdh22
|
APN |
2 |
165,012,728 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02268:Cdh22
|
APN |
2 |
164,965,639 (GRCm39) |
splice site |
probably benign |
|
|
IGL02455:Cdh22
|
APN |
2 |
164,984,175 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03231:Cdh22
|
APN |
2 |
164,958,126 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03264:Cdh22
|
APN |
2 |
164,958,093 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03014:Cdh22
|
UTSW |
2 |
164,954,331 (GRCm39) |
nonsense |
probably null |
|
|
R0712:Cdh22
|
UTSW |
2 |
165,012,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0865:Cdh22
|
UTSW |
2 |
165,022,976 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1192:Cdh22
|
UTSW |
2 |
164,977,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:Cdh22
|
UTSW |
2 |
165,012,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Cdh22
|
UTSW |
2 |
164,985,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Cdh22
|
UTSW |
2 |
165,022,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2137:Cdh22
|
UTSW |
2 |
164,958,314 (GRCm39) |
splice site |
probably benign |
|
|
R2270:Cdh22
|
UTSW |
2 |
164,985,767 (GRCm39) |
splice site |
probably null |
|
|
R2271:Cdh22
|
UTSW |
2 |
164,985,767 (GRCm39) |
splice site |
probably null |
|
|
R2272:Cdh22
|
UTSW |
2 |
164,985,767 (GRCm39) |
splice site |
probably null |
|
|
R4021:Cdh22
|
UTSW |
2 |
164,985,593 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4022:Cdh22
|
UTSW |
2 |
164,999,173 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4613:Cdh22
|
UTSW |
2 |
164,985,576 (GRCm39) |
missense |
probably benign |
|
|
R4625:Cdh22
|
UTSW |
2 |
164,954,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Cdh22
|
UTSW |
2 |
164,984,197 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5057:Cdh22
|
UTSW |
2 |
164,958,063 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5649:Cdh22
|
UTSW |
2 |
164,958,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6175:Cdh22
|
UTSW |
2 |
164,988,550 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6297:Cdh22
|
UTSW |
2 |
164,985,564 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6445:Cdh22
|
UTSW |
2 |
165,012,612 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7294:Cdh22
|
UTSW |
2 |
164,984,013 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7310:Cdh22
|
UTSW |
2 |
164,954,214 (GRCm39) |
nonsense |
probably null |
|
|
R7595:Cdh22
|
UTSW |
2 |
164,954,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7601:Cdh22
|
UTSW |
2 |
164,954,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8047:Cdh22
|
UTSW |
2 |
165,012,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8308:Cdh22
|
UTSW |
2 |
164,954,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8480:Cdh22
|
UTSW |
2 |
164,988,646 (GRCm39) |
missense |
probably benign |
|
|
R8526:Cdh22
|
UTSW |
2 |
164,954,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Cdh22
|
UTSW |
2 |
164,965,504 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8928:Cdh22
|
UTSW |
2 |
164,965,504 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9158:Cdh22
|
UTSW |
2 |
165,012,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9433:Cdh22
|
UTSW |
2 |
164,954,329 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9498:Cdh22
|
UTSW |
2 |
164,954,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9638:Cdh22
|
UTSW |
2 |
164,988,687 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9657:Cdh22
|
UTSW |
2 |
164,965,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Cdh22
|
UTSW |
2 |
164,954,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Cdh22
|
UTSW |
2 |
164,958,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cdh22
|
UTSW |
2 |
164,988,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTACTTTGTGGGAAGCGG -3'
(R):5'- CACCTTAGTTACCAAGGCAATCT -3'
Sequencing Primer
(F):5'- AAGCGGGGTGGGTTGTC -3'
(R):5'- TCACAGCTCCAGATGGTTAGAGTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation